ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388228
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236406
ClinVar RCV Id:
RCV000225413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Gly289Ala
CA10581619
NM_001005741.2:c.866G>C